How changes in the SMARCB1 gene affect cancer
Functional consequences of SMARCB1 variants
This project looks at how different changes in the SMARCB1 gene change cancer cell behavior, with a focus on cancers that affect children, teens, and young adults.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-11248828 on NIH RePORTER |
What this research studies
Researchers will use deep mutational scanning to test more than 99% of possible changes in the SMARCB1 gene and see how each change affects the protein’s function. They will examine how specific missense mutations alter SMARCB1’s ability to bind other members of the SWI/SNF chromatin remodeling complex. Lab experiments will determine which mutations cause cancer-like behavior in cells and which mutations make SMARCB1 overly active. The team will use these results to map harmful versus benign variants and to better understand the biology behind SMARCB1-driven cancers.
Who could benefit from this research
Good fit: Patients with tumors that have SMARCB1 mutations or who have SMARCB1-deficient cancers, particularly infants, children, adolescents, and young adults, would be most relevant to this work.
Not a fit: People without SMARCB1 mutations or with cancers unrelated to SMARCB1 are unlikely to receive direct benefit from this research.
Why it matters
Potential benefit: If successful, this work could help doctors interpret genetic test results, identify which SMARCB1 changes are harmful, and point to new targets for therapies.
How similar studies have performed: Deep mutational scanning and functional mapping have clarified variant effects in other tumor suppressor genes, but applying this comprehensive approach to SMARCB1 is relatively new.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Hong, Andrew L — Emory University
- Study coordinator: Hong, Andrew L
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.